KATNB1 (katanin regulatory subunit B1)

2019-04-01  

Identity

HGNC
KATNB1
LOCATION
16q21
LOCUSID
10300
ALIAS
KAT,LIS6

Other Information

Locus ID:

NCBI: 10300
MIM: 602703
HGNC: 6217
Ensembl: ENSG00000140854

Variants:

dbSNP: 10300
ClinVar: 10300
TCGA: ENSG00000140854
COSMIC: KATNB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140854ENST00000379661Q9BVA0
ENSG00000140854ENST00000562592H3BPK1
ENSG00000140854ENST00000563462H3BTU7
ENSG00000140854ENST00000566726H3BPD8
ENSG00000140854ENST00000566785H3BTV8
ENSG00000140854ENST00000569627H3BT67

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
255213792014Katanin p80 regulates human cortical development by limiting centriole and cilia number.30
284369672017Microtubule minus-end regulation at spindle poles by an ASPM-katanin complex.30
255213782014Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.23
192616062009The Cul3/Klhdc5 E3 ligase regulates p60/katanin and is required for normal mitosis in mammalian cells.21
205089832011Centrosome-related genes, genetic variation, and risk of breast cancer.16
184903572008LAPSER1/LZTS2: a pluripotent tumor suppressor linked to the inhibition of katanin-mediated microtubule severing.13
269292142016Proteomic Analysis of the Mammalian Katanin Family of Microtubule-severing Enzymes Defines Katanin p80 subunit B-like 1 (KATNBL1) as a Regulator of Mammalian Katanin Microtubule-severing.12
280791162017Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics.5
252800672014KATNB1 in the human testis and its genetic variants in fertile and oligoasthenoteratozoospermic infertile men.4
277175572016Expression of katanin p80 in human spermatogenesis.4

Citation

Dessen P

KATNB1 (katanin regulatory subunit B1)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57839/katnb1